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http://purl.uniprot.org/citations/16849409http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16849409http://www.w3.org/2000/01/rdf-schema#comment"

Context

Individuals with the functional ER22/23EK variant in the glucocorticoid receptor gene are relatively resistant to the downstream consequences of glucocorticoids. Evidence suggests that carriers have a more favorable cardiovascular risk profile, but the relationship between this ER22/23EK variant and cardiovascular disease has not been hitherto assessed.

Objective

We, therefore, determined whether carriership of the ER22/23EK improves cardiovascular disease risk in patients with severe hypercholesterolemia.

Design, setting, and participants

In a multicenter cohort study, 2024 patients with heterozygous familial hypercholesterolemia, aged 18 yr and older, were genotyped for the ER22/23EK polymorphism. Patients were identified at lipid clinics throughout The Netherlands between 1989 and 2002.

Main outcome measures

The primary outcome measure was cardiovascular disease.

Results

Seventy-six (7.8%) of 977 men and 72 (6.9%) of 1047 women were carriers of the ER22/23EK variant. A total of 395 men and 247 women had a cardiovascular event. In contrast to expected results, we observed no significant association of the ER22/23EK variant with cardiovascular disease risk (men: relative risk, 0.75; 95% confidence interval, 0.50-1.14; P = 0.2; women: relative risk, 1.37; 95% confidence interval, 0.82-2.28; P = 0.2). However, we found a significant interaction between gender and the polymorphism on cardiovascular disease (P = 0.02).

Conclusions

In this large cohort of individuals with very high risk of cardiovascular disease, the association between the functional ER22/23EK polymorphism and cardiovascular risk was not significant overall, although it varied significantly by gender."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.org/dc/terms/identifier"doi:10.1210/jc.2006-0578"xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/author"Dallinga-Thie G.M."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/author"Steyerberg E.W."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/author"Defesche J.C."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/author"Kastelein J.J."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/author"Sijbrands E.J."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/author"Lamberts S.W."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/author"van Rossum E.F."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/author"Koeijvoets K.C."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/date"2006"xsd:gYear
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/name"J Clin Endocrinol Metab"xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/pages"4131-4136"xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/title"A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemia."xsd:string
http://purl.uniprot.org/citations/16849409http://purl.uniprot.org/core/volume"91"xsd:string
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